MCID: LNG097
MIFTS: 27

Liang Distal Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Liang Distal Myopathy

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Aliases & Descriptions for Liang Distal Myopathy:

Name: Liang Distal Myopathy 51
Laing Early-Onset Distal Myopathy 23 47 24 25 53 69
Laing Distal Myopathy 23 47 24 25 69 12
Mpd1 25 53 69
Distal Myopathy Type 1 53 26
Myopathy, Distal, 1 51 69
 
Distal Myopathy 1 25 69
Myopathy Distal Early-Onset Autosomal Dominant 69
Myopathy Late Distal Hereditary 69
Welander Distal Myopathy 67
Myopathy Distal, Type 1 47
Gowers Disease 53

Characteristics:

Orphanet epidemiological data:

53
laing early-onset distal myopathy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

63
liang distal myopathy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset, slow progression, phenotypic variability, childhood onset

GeneReviews:

23
Penetrance: penetrance appears to be at least 85%. ...


Classifications:



External Ids:

OMIM51 160500
Orphanet53 ORPHA59135
ICD10 via Orphanet30 G71.0
MedGen36 CN074249
MeSH38 D049310

Summaries for Liang Distal Myopathy

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NIH Rare Diseases:47 Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood.   Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk.  Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion. Last updated: 4/1/2011

MalaCards based summary: Liang Distal Myopathy, also known as laing early-onset distal myopathy, is related to myopathy and inclusion body myositis, and has symptoms including high palate, neck muscle weakness and gait disturbance. An important gene associated with Liang Distal Myopathy is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include skeletal muscle.

Genetics Home Reference:25 Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.

UniProtKB/Swiss-Prot:69 Myopathy, distal, 1: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.

Description from OMIM:51 160500

GeneReviews for NBK1433

Related Diseases for Liang Distal Myopathy

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Diseases related to Liang Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.2
2inclusion body myositis9.8
3myositis9.8

Symptoms for Liang Distal Myopathy

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Symptoms by clinical synopsis from OMIM:

160500

Clinical features from OMIM:

160500

Human phenotypes related to Liang Distal Myopathy:

 63 (show all 18)
id Description HPO Frequency HPO Source Accession
1 high palate63 HP:0000218
2 neck muscle weakness63 HP:0000467
3 gait disturbance63 HP:0001288
4 dilated cardiomyopathy63 HP:0001644
5 pes cavus63 HP:0001761
6 distal muscle weakness63 HP:0002460
7 scoliosis63 HP:0002650
8 ragged-red muscle fibers63 HP:0003200
9 elevated serum creatine phosphokinase63 HP:0003236
10 myalgia63 HP:0003326
11 emg63 HP:0003445
12 proximal muscle weakness63 HP:0003701
13 type 1 muscle fiber predominance63 HP:0003803
14 mildly elevated creatine phosphokinase63 HP:0008180
15 amyotrophy of ankle musculature63 HP:0009031
16 weakness of long finger extensor muscles63 HP:0009077
17 facial palsy63 HP:0010628
18 toe extensor amyotrophy63 HP:0011916

UMLS symptoms related to Liang Distal Myopathy:


myalgia, gait, drop foot

Drugs & Therapeutics for Liang Distal Myopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Liang Distal Myopathy

Genetic Tests for Liang Distal Myopathy

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Genetic tests related to Liang Distal Myopathy:

id Genetic test Affiliating Genes
1 Myopathy, Distal, 126
2 Laing Distal Myopathy24 MYH7

Anatomical Context for Liang Distal Myopathy

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MalaCards organs/tissues related to Liang Distal Myopathy:

35
Skeletal muscle

Animal Models for Liang Distal Myopathy or affiliated genes

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Publications for Liang Distal Myopathy

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Variations for Liang Distal Myopathy

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UniProtKB/Swiss-Prot genetic disease variations for Liang Distal Myopathy:

69
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1500ProVAR_022369rs121913647
2MYH7p.Ala1663ProVAR_022370rs797044601
3MYH7p.Leu1706ProVAR_022371rs797044602
4MYH7p.Thr441MetVAR_042785rs121913653

Clinvar genetic disease variations for Liang Distal Myopathy:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro)SNVPathogenicrs121913647GRCh37Chr 14, 23886382: 23886382
2MYH7NM_000257.3(MYH7): c.1322C> T (p.Thr441Met)SNVPathogenicrs121913653GRCh37Chr 14, 23898249: 23898249
3MYH7NM_000257.3(MYH7): c.4442T> C (p.Leu1481Pro)SNVPathogenicrs587779414GRCh37Chr 14, 23886439: 23886439
4MYH7NM_000257.3(MYH7): c.4622A> C (p.Gln1541Pro)SNVPathogenicrs587779389GRCh37Chr 14, 23886099: 23886099
5MYH7NM_000257.3(MYH7): c.4795A> C (p.Thr1599Pro)SNVPathogenicrs587779390GRCh37Chr 14, 23885371: 23885371
6MYH7NM_000257.3(MYH7): c.4823G> C (p.Arg1608Pro)SNVPathogenicrs587779391GRCh37Chr 14, 23885343: 23885343
7MYH7NM_000257.3(MYH7): c.4835T> C (p.Leu1612Pro)SNVPathogenicrs587779392GRCh37Chr 14, 23885331: 23885331
8MYH7NM_000257.3(MYH7): c.4937T> C (p.Leu1646Pro)SNVPathogenicrs587779393GRCh37Chr 14, 23885229: 23885229
9MYH7NM_000257.3(MYH7): c.4985G> C (p.Arg1662Pro)SNVPathogenicrs370328209GRCh37Chr 14, 23885010: 23885010
10MYH7NM_000257.3(MYH7): c.5005_5007delGAG (p.Glu1669del)deletionPathogenicrs587779394GRCh37Chr 14, 23884988: 23884990
11MYH7NM_000257.3(MYH7): c.5186_5188dupAGA (p.Lys1729_Met1730insLys)duplicationPathogenicrs587779395GRCh37Chr 14, 23884685: 23884687
12MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
13MYH7NM_000257.3(MYH7): c.4906G> C (p.Ala1636Pro)SNVPathogenicrs587779415GRCh37Chr 14, 23885260: 23885260
14MYH7NM_000257.3(MYH7): c.4850_4852delAGA (p.Lys1617del)deletionPathogenicrs121913648GRCh37Chr 14, 23885314: 23885316
15MYH7NM_000257.3(MYH7): c.5566G> A (p.Glu1856Lys)SNVPathogenicrs797044598GRCh37Chr 14, 23883305: 23883305
16MYH7NM_000257.3(MYH7): c.4315G> C (p.Ala1439Pro)SNVPathogenicrs797044599GRCh37Chr 14, 23886750: 23886750
17MYH7NM_000257.3(MYH7): c.4763G> C (p.Arg1588Pro)SNVPathogenicrs797044600GRCh38Chr 14, 23416194: 23416194
18MYH7NM_000257.3(MYH7): c.4772T> C (p.Leu1591Pro)SNVPathogenicrs730880808GRCh38Chr 14, 23416185: 23416185
19MYH7NM_000257.3(MYH7): c.4807G> C (p.Ala1603Pro)SNVPathogenicrs730880809GRCh37Chr 14, 23885359: 23885359
20MYH7NM_000257.3(MYH7): c.4987G> C (p.Ala1663Pro)SNVPathogenicrs797044601GRCh38Chr 14, 23415799: 23415799
21MYH7NM_000257.3(MYH7): c.5117T> C (p.Leu1706Pro)SNVPathogenicrs797044602GRCh37Chr 14, 23884878: 23884878
22MYH7NM_000257.3(MYH7): c.1544T> C (p.Met515Thr)SNVLikely pathogenicrs863224900GRCh37Chr 14, 23897743: 23897743
23MYH7NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionPathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
24MYH7NM_000257.3(MYH7): c.4522_4524delGAG (p.Glu1508del)deletionPathogenicrs397516220GRCh37Chr 14, 23886197: 23886199
25MYH7NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys)SNVLikely pathogenic, Pathogenicrs397516248GRCh37Chr 14, 23884362: 23884362
26MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)SNVPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018

Expression for genes affiliated with Liang Distal Myopathy

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Search GEO for disease gene expression data for Liang Distal Myopathy.

Pathways for genes affiliated with Liang Distal Myopathy

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GO Terms for genes affiliated with Liang Distal Myopathy

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Sources for Liang Distal Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet